Recombinant人CSB protein (ab114506)


  • 产品名称Recombinant人CSB protein
  • 蛋白长度Protein fragment


  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ03468
    • 种属Human
    • 分子量37 kDa including tags
    • 氨基酸1394 to 1493


Our Abpromise guarantee covers the use of ab114506 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用



    Western blot

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml. This protein is best used within three months from the date of receipt.
  • Concentration information loading...


  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl


  • 别名
    • 4732403I04
    • ARMD 5
    • ARMD5
    • ATP dependent helicase ERCC6
    • ATP-dependent helicase ERCC6
    • C130058G22Rik
    • CKN 2
    • CKN2
    • Cockayne syndrome B protein
    • Cockayne syndrome group B protein
    • Cockayne syndrome protein CSB
    • COFS
    • COFS1
    • CS group B correcting
    • CSB
    • DNA excision repair protein ERCC 6
    • DNA excision repair protein ERCC-6
    • ERCC 6
    • ERCC6
    • Excision repair cross complementing rodent repair deficiency, complementation group 6
    • OTTHUMP00000019581
    • RAD26
    • Rad26 homolog
    • UVSS1
    see all
  • 功能Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.
  • 疾病相关Defects in ERCC6 are the cause of Cockayne syndrome type B (CSB) [MIM:133540]. Cockayne syndrome is a rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.
    Defects in ERCC6 are the cause of cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150]; also known as COFS syndrome or Pena-Shokeir syndrome type 2. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.
    Defects in ERCC6 are a cause of De Sanctis-Cacchione syndrome (DSC) [MIM:278800]; also known as xerodermic idiocy. DSC is an autosomal recessive syndrome consisting of xeroderma pigmentosum associated with mental retardation, retarded growth, gonadal hypoplasia and sometimes neurologic complications.
    Note=A genetic variation in the 5-prime flanking region of ERCC6 has been shown to be associated with susceptibility to age-related macular degeneration.
    Defects in ERCC6 are a cause of UV-sensitive syndrome (UVS) [MIM:600630]. UVS is a rare autosomal recessive disorder characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors.
  • 序列相似性Belongs to the SNF2/RAD54 helicase family.
    Contains 1 helicase ATP-binding domain.
    Contains 1 helicase C-terminal domain.
  • 结构域A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair to proceed.
  • 翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
    Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner.
  • 细胞定位Nucleus.
  • Information by UniProt

Recombinant Human CSB protein 图像

  • ab114506 analysed by 12.5% SDS-PAGE and stained with Coomassie Blue.

Recombinant Human CSB protein (ab114506)参考文献

ab114506 has not yet been referenced specifically in any publications.

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